Linked Data
ClinVar Variation Id:
827234
dbSNP Id:
rs1291847947
gnomAD v4:
5-112843337-T-C
MyVariant Identifiers:
chr5:g.112179034T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843337T>C , CM000667.2:g.112843337T>C | GRCh38 |
| NC_000005.9:g.112179034T>C , CM000667.1:g.112179034T>C | GRCh37 |
| NC_000005.8:g.112206933T>C | NCBI36 |
| NG_008481.4:g.155817T>C , LRG_130:g.155817T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7797T>C | ENSP00000473355.2:p.Ser2599= | |
| ENST00000505350.2:c.*7749T>C | ENSP00000481752.1:n.*7749T>C | |
| ENST00000507379.6:c.7689T>C | ENSP00000423224.2:p.Ser2563= | |
| ENST00000509732.6:c.7743T>C | ENSP00000426541.2:p.Ser2581= | |
| ENST00000512211.7:c.7743T>C | ENSP00000423828.3:p.Ser2581= | |
| ENST00000257430.9:c.7743T>C MANE Select | ENSP00000257430.4:p.Ser2581= | |
| ENST00000257430.8:c.7743T>C | ENSP00000257430.4:p.Ser2581= | |
| ENST00000508376.6:c.7743T>C | ENSP00000427089.2:p.Ser2581= | |
| ENST00000520401.1:c.231-13312T>C | ||
| NM_000038.5:c.7743T>C | NP_000029.2:p.Ser2581= | |
| NM_001127510.2:c.7743T>C | NP_001120982.1:p.Ser2581= | |
| NM_001127511.2:c.7689T>C | NP_001120983.2:p.Ser2563= | |
| NM_001354895.1:c.7743T>C | NP_001341824.1:p.Ser2581= | |
| NM_001354896.1:c.7797T>C | NP_001341825.1:p.Ser2599= | |
| NM_001354897.1:c.7773T>C | NP_001341826.1:p.Ser2591= | |
| NM_001354898.1:c.7668T>C | NP_001341827.1:p.Ser2556= | |
| NM_001354899.1:c.7659T>C | NP_001341828.1:p.Ser2553= | |
| NM_001354900.1:c.7620T>C | NP_001341829.1:p.Ser2540= | |
| NM_001354901.1:c.7566T>C | NP_001341830.1:p.Ser2522= | |
| NM_001354902.1:c.7470T>C | NP_001341831.1:p.Ser2490= | |
| NM_001354903.1:c.7440T>C | NP_001341832.1:p.Ser2480= | |
| NM_001354904.1:c.7365T>C | NP_001341833.1:p.Ser2455= | |
| NM_001354905.1:c.7263T>C | NP_001341834.1:p.Ser2421= | |
| NM_001354906.1:c.6894T>C | NP_001341835.1:p.Ser2298= | |
| NM_000038.6:c.7743T>C MANE Select | NP_000029.2:p.Ser2581= | |
| NM_001127510.3:c.7743T>C | NP_001120982.1:p.Ser2581= | |
| NM_001127511.3:c.7689T>C | NP_001120983.2:p.Ser2563= | |
| NM_001354895.2:c.7743T>C | NP_001341824.1:p.Ser2581= | |
| NM_001354896.2:c.7797T>C | NP_001341825.1:p.Ser2599= | |
| NM_001354897.2:c.7773T>C | NP_001341826.1:p.Ser2591= | |
| NM_001354898.2:c.7668T>C | NP_001341827.1:p.Ser2556= | |
| NM_001354899.2:c.7659T>C | NP_001341828.1:p.Ser2553= | |
| NM_001354900.2:c.7620T>C | NP_001341829.1:p.Ser2540= | |
| NM_001354901.2:c.7566T>C | NP_001341830.1:p.Ser2522= | |
| NM_001354902.2:c.7470T>C | NP_001341831.1:p.Ser2490= | |
| NM_001354903.2:c.7440T>C | NP_001341832.1:p.Ser2480= | |
| NM_001354904.2:c.7365T>C | NP_001341833.1:p.Ser2455= | |
| NM_001354905.2:c.7263T>C | NP_001341834.1:p.Ser2421= | |
| NM_001354906.2:c.6894T>C | NP_001341835.1:p.Ser2298= |